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MGME1 mitochondrial genome maintenance exonuclease 1 [ Homo sapiens (human) ]

Gene ID: 92667, updated on 12-Oct-2019

Summary

Official Symbol
MGME1provided by HGNC
Official Full Name
mitochondrial genome maintenance exonuclease 1provided by HGNC
Primary source
HGNC:HGNC:16205
See related
Ensembl:ENSG00000125871 MIM:615076
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DDK1; MTDPS11; C20orf72; bA504H3.4
Summary
The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Expression
Ubiquitous expression in skin (RPKM 10.5), lymph node (RPKM 7.8) and 24 other tissues See more
Orthologs

Genomic context

See MGME1 in Genome Data Viewer
Location:
20p11.23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (17968594..17991122)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17949534..17971765)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372549 Neighboring gene sorting nexin 5 Neighboring gene small nucleolar RNA, C/D box 17 Neighboring gene prothymosin alpha pseudogene 3 Neighboring gene ovo like zinc finger 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14597

Gene Ontology Provided by GOA

Function Evidence Code Pubs
single-stranded DNA exodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial DNA repair TAS
Traceable Author Statement
more info
PubMed 
mitochondrial DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial genome maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mitochondrial genome maintenance exonuclease 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042236.1 RefSeqGene

    Range
    5128..27232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001310338.2NP_001297267.1  mitochondrial genome maintenance exonuclease 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001297267.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC016869, BM750186, BX382492, DB014120
    UniProtKB/Swiss-Prot
    Q9BQP7
    Conserved Domains (1) summary
    cl00641
    Location:148291
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  2. NM_001310339.2NP_001297268.1  mitochondrial genome maintenance exonuclease 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC016869, BM750186, CV807140, DB014120
    Consensus CDS
    CCDS82600.1
    UniProtKB/Swiss-Prot
    Q9BQP7
    UniProtKB/TrEMBL
    Q5QPE7
    Related
    ENSP00000366933.4, ENST00000377704.4
  3. NM_001363738.1NP_001350667.1  mitochondrial genome maintenance exonuclease 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AF306686, AK310282, BC016869, BG684257, DB014120
    Consensus CDS
    CCDS86934.1
    Related
    ENSP00000366938.1, ENST00000377709.1
    Conserved Domains (1) summary
    cl00641
    Location:96205
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  4. NM_052865.4NP_443097.1  mitochondrial genome maintenance exonuclease 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_443097.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC016869, BM750186, DB014120
    Consensus CDS
    CCDS13131.1
    UniProtKB/Swiss-Prot
    Q9BQP7
    Related
    ENSP00000366939.5, ENST00000377710.10
    Conserved Domains (1) summary
    cl00641
    Location:176285
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    17968594..17991122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028128.1XP_016883617.1  mitochondrial genome maintenance exonuclease 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9BQP7
    Conserved Domains (1) summary
    cl00641
    Location:176285
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  2. XM_011529394.1XP_011527696.1  mitochondrial genome maintenance exonuclease 1 isoform X1

    See identical proteins and their annotated locations for XP_011527696.1

    Conserved Domains (1) summary
    cl00641
    Location:148291
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  3. XM_006723663.4XP_006723726.1  mitochondrial genome maintenance exonuclease 1 isoform X4

  4. XM_005260870.4XP_005260927.1  mitochondrial genome maintenance exonuclease 1 isoform X6

    See identical proteins and their annotated locations for XP_005260927.1

  5. XM_017028127.2XP_016883616.1  mitochondrial genome maintenance exonuclease 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9BQP7
    Conserved Domains (1) summary
    cl00641
    Location:176285
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  6. XM_005260867.3XP_005260924.1  mitochondrial genome maintenance exonuclease 1 isoform X1

    See identical proteins and their annotated locations for XP_005260924.1

    Conserved Domains (1) summary
    cl00641
    Location:148291
    Cas4_I-A_I-B_I-C_I-D_II-B; CRISPR/Cas system-associated protein Cas4
  7. XM_024452017.1XP_024307785.1  mitochondrial genome maintenance exonuclease 1 isoform X5

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